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P298 Detection of the t(11;19)(q21;p13) translocation in Warthin tumors

✍ Scribed by A. Fehr; K. Röser; N. Drieschner; T. Löning; J. Bullerdiek

Book ID: 114417873
Publisher: Elsevier Science
Year: 2007
Weight: 51 KB
Volume: 2
Category: Article
ISSN: 1744-7895
DOI: 10.1016/s1744-7895(07)70577-1

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A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 mi